ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.1782T>C (p.Ile594=)

gnomAD frequency: 0.00006  dbSNP: rs201143720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136163 SCV002450931 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971090 SCV004787942 likely benign FN1-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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